Castle Biosciences Launches Next-Generation Sequencing Panel DecisionDx-UMSeq  for Uveal Melanoma

New additional test complements Castle’s DecisionDx-UM gene expression profile test
Optimized laboratory process allows for reporting of three independent tests from a single biopsy

Friendswood, TX – January 8, 2018 – Castle Biosciences, Inc., a provider of molecular diagnostics to improve cancer treatment decisions, today announced the launch of the DecisionDx®-UMSeq panel that uses next-generation sequencing (NGS) to identify somatic mutations in genes relevant to uveal melanoma (UM). The new test will complement Castle Biosciences’ standard-of-care DecisionDx®-UM gene expression profile (GEP) test that has been shown to be independent of and superior to mutational analysis in assessing likelihood of metastasis in UM.

The GEP test currently provides the best and most well-validated prognostic information about UM tumors. The additive role that the new DecisionDx-UMSeq results may provide in combination with DecisionDx-UM GEP results is undergoing refinement.

“For patients with uveal melanoma, tumor tissue is very limited, so it is imperative that we gain as much information as possible about a uveal melanoma tumor from a single precious biopsy,” noted Federico A. Monzon, M.D. FCAP, Chief Medical Officer of Castle Biosciences. “Offering sequencing services from the same biopsy sample provided for the standard-of-care DecisionDx-UM test enables patients to receive actionable information from the most robust prognostic test available, while also obtaining mutational information that may enable a better understanding of the patient’s tumor and influence future patient care decisions.”

The DecisionDx-UMSeq panel is now available to patients undergoing DecisionDx-UM prognostic (GEP) testing and will be run from the same tumor tissue biopsy. The results from the DecisionDx-UMSeq panel, along with the prognostic DecisionDx-UM and DecisionDx-PRAME GEP tests, will now provide a comprehensive genomic profile of a UM tumor from a single biopsy.

The DecisionDx-UMSeq panel will evaluate DNA mutations in seven genes known to be relevant to UM. The test will analyze hotspot mutations in GNAQ, GNA11, PLCB4, CYSLTR2, SF3B1; exons 1-2 of EIF1AX; and the coding exons of BAP1 gene. Mutations in GNAQ, GNA11, PLCB4, and CYSLTR2 are initiating events in the development of melanocytic tumors such as UM, while later driver mutations in EIF1AX, SF3B1, and BAP1 may impact the UM tumor’s ability to grow and metastasize. While no currently available therapies target pathways affected by the gene mutations evaluated in the DecisionDx-UMSeq panel, the genomic information may be useful in the future to inform patient care as UM research and therapeutic options evolve. Additional information about the genes in the DecisionDx-UMSeq panel is available here on the website.

How to order DecisionDx-UMSeq

The DecisionDx-UMSeq test can be ordered for patients who are having DecisionDx-UM GEP testing. The DecisionDx-UMSeq requisition form can be submitted concurrently with the DecisionDx-UM GEP test or after receipt of the GEP results. DecisionDx-UMSeq is currently validated for fine needle aspiration biopsy (FNAB) samples that have not previously been exposed to radiation. The sequencing test can be run from the same FNAB sample taken for the DecisionDx-UM GEP test.

About DecisionDx-UM

The DecisionDx-UM test measures the gene expression profile (GEP), or molecular signature, of an individual’s tumor and identifies with high accuracy the likelihood of metastasis. The DecisionDx-UM test is standard of care in the management of uveal melanoma in the majority of ocular oncology practices. Since 2009, the American Joint Committee on Cancer (AJCC; v7 and v8) has included GEP testing for identification of Class 1 and 2 as a prognostic factor recommended for clinical care. The AJCC is the only national organization that reviews uveal melanoma and the DecisionDx-UM test is the only clinically available GEP test for use in the U.S. The test has been validated in multiple prospective and retrospective studies. It is estimated that nearly 7 in 10 diagnosed patients in the U.S. receive DecisionDx-UM as part of their diagnostic workup. More information about the test and disease can be found at

About Castle Biosciences
Castle Biosciences is a molecular diagnostics company dedicated to helping patients and their physicians make the best possible decisions about their treatment and follow up care based on the individual molecular signature of their tumor. The Company currently offers tests for patients with cutaneous melanoma (DecisionDx®-Melanoma; and uveal melanoma (DecisionDx®-UM, DecisionDx®-PRAME and DecisionDx®-UMSeq;, with development programs in other underserved cancers. Castle Biosciences is based in Friendswood, TX (Houston), and has laboratory operations in Phoenix, AZ. More information can be found at

DecisionDx-Melanoma, DecisionDx-UM, DecisionDx-PRAME and DecisionDx-UMSeq are the trademarks of Castle Biosciences, Inc. Any other trademarks are the property of their respective owners.


Derek Maetzold, President and CEO


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GETTING TESTED       Timing is Important
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